Premium
Hemojuvelin ( HJV ) mutations in persons of European, African‐American and Asian ancestry with adult onset haemochromatosis
Author(s) -
Lee Pauline L.,
Barton James C.,
Brandhagen David,
Beutler Ernest
Publication year - 2004
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2004.05165.x
Subject(s) - genetics , compound heterozygosity , mutation , gene , phenotype , gene mutation , biology
Summary Mutations in the chromosome 1q‐linked gene hemojuvelin ( HJV ) have recently been found to be a cause of juvenile haemochromatosis. We addressed the question of whether hemojuvelin mutations may influence the phenotype of patients with adult‐onset haemochromatosis with or without mutations of the HFE gene. We sequenced the complete coding region of 133 subjects with iron overload. To screen a large number of patients, we also developed conditions for analysis by denaturing high‐performance liquid chromatography (dHPLC). This diagnostic modality detects many mutations of the HJV gene. One patient with severe iron overload was found to be a compound heterozygote for HJV mutations, one of which had previously been identified in patients with juvenile haemochromatosis (G320V) and the other was novel (C321W). A number of other mutations were identified, but none were clearly associated with increases in the body iron burden. Notable among these was a DNA triplet insert, predicting an insertion of glycine, found in two African‐American subjects, one with and one without iron storage disease.